Product Details

SNP ID

rs138218533

Assay Type

Functionally Tested

NCBI dbSNP Submissions

1

Location

Chr.1:197040576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACTGCCCTCTGTCACATTGCATT[C/G]TAAGTATAGATCCAGTAATATATAA

Phenotype

MIM: 134580

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

F13B PubMed Links

Additional Information

For this assay, SNP(s) [rs5998] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

F13B

Gene Name

coagulation factor XIII B chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001994.2	1936	Missense Mutation	ACA,AGA	T633R	NP_001985.2
XM_011509283.2	1936	Missense Mutation	ACA,AGA	T633R	XP_011507585.1
XM_011509284.2	1936	Missense Mutation	ACA,AGA	T632R	XP_011507586.1
XM_011509286.2	1936	Missense Mutation	ACA,AGA	T585R	XP_011507588.1

View Full Product Details